Mutations
SORL1 H962Afs
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Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121558809 C>CC
Position: (GRCh37/hg19):Chr11:121429518 C>CC
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Duplication
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 20
Findings
This variant was identified in the French CNR-MAJ dataset (Centre National de Référence-Malades Alzheimer Jeunes, the National Reference Center for Young Alzheimer Patients).
The proband (APOE genotype E3/E3) was diagnosed with probable AD with age of onset 51 years. A sibling was also diagnosed with AD (age of onset 60), while five other siblings were unaffected at ages ranging from 42 to 70 years. A half-sibling of the proband—cognitively intact at 52 years (APOE E3/E3)—was also found to be a carrier of the variant.
Last Updated: 18 Jul 2024
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Other mutations at this position
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